Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression

Autor: Arindam Maitra, Bidyut Roy, Sandip Ghose, Shreya Das, Partha P. Majumder, Nidhan K. Biswas, Sila Datta, Richa Singh, Anjana Mazumdar
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Physiology
Somatic cell
DNA Mutational Analysis
Gene Identification and Analysis
Gene mutation
Pathology and Laboratory Medicine
medicine.disease_cause
0302 clinical medicine
Gene Frequency
Medicine and Health Sciences
Frameshift Mutation
Oral Leukoplakia
Leukoplakia
Caspase 8
Mutation
Multidisciplinary
Middle Aged
Head and Neck Tumors
Body Fluids
Blood
Deletion Mutation
Oncology
030220 oncology & carcinogenesis
Disease Progression
Medicine
Female
Mouth Neoplasms
Anatomy
Leukoplakia
Oral

Research Article
Adult
Dysplasia
Science
India
03 medical and health sciences
Signs and Symptoms
Germline mutation
stomatognathic system
Diagnostic Medicine
Genetics
Biomarkers
Tumor

medicine
Humans
Mutation Detection
Allele frequency
Aged
business.industry
Biology and Life Sciences
Cancers and Neoplasms
Cancer
medicine.disease
stomatognathic diseases
030104 developmental biology
Head and Neck Cancers
Cancer research
Somatic Mutation
business
Zdroj: PLoS ONE, Vol 15, Iss 6, p e0233058 (2020)
PLoS ONE
ISSN: 1932-6203
Popis: It is hypothesized that same driver gene mutations should be present in both oral leukoplakia and cancer tissues. So, we attempted to find out mutations at one of the driver genes, CASP8, in cancer and adjacent leukoplakia tissues. Patients (n = 27), affected by both of cancer and adjacent leukoplakia, were recruited for the study. Blood and tissue DNA samples were used to identify somatic mutations at CASP8 by next generation sequencing method. In total, 56% (15 out of 27) cancer and 30% (8 out of 27) leukoplakia tissues had CASP8 somatic mutations. In 8 patients, both cancer and adjacent leukoplakia tissues, located within 2-5 cm of tumor sites, had identical somatic mutations. But, in 7 patients, cancer samples had somatic mutations but none of the leukoplakia tissues, located beyond 5cm of tumor sites, had somatic mutations. Mutated allele frequencies at CASP8 were found to be more in cancer compared to adjacent leukoplakia tissues. This study provides mutational evidence that oral cancer might have progressed from previously grown leukoplakia lesion. Leukoplakia tissues, located beyond 5cm of cancer sites, were free from mutation. The study implies that CASP8 mutation could be one of the signatures for some of the leukoplakia to progress to oral cancer.
Databáze: OpenAIRE
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